| RS1060505041 |
NACC1
|
Health Risk |
Pathogenic/Likely pathogenic |
Neurodevelopmental disorder with epilepsy, cataracts |
| RS1060505042 |
CFAP418
|
Health Risk |
Pathogenic/Likely pathogenic |
Retinitis pigmentosa 64, CFAP418-related disorder |
| RS1060505043 |
DYNLT2B
|
Health Risk |
Pathogenic |
Short-rib thoracic dysplasia 17 with or without polydactyly, Short-rib thoracic dysplasia 17 with or without polydactyly |
| RS1060505044 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS1060505045 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS1060505047 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS1060505048 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS1060505050 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS1060505051 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS1060505052 |
BRCA1
|
Health Risk |
Pathogenic |
Breast-ovarian cancer, familial |
| RS1060505054 |
NFIA
|
Health Risk |
Pathogenic |
Brain malformations with or without urinary tract defects, Brain malformations with or without urinary tract defects |
| RS1060505055 |
MSH5
|
Health Risk |
Pathogenic |
Premature ovarian failure 13, Premature ovarian failure 13 |
| RS1060505056 |
FYB1
|
Health Risk |
Pathogenic |
Thrombocytopenia 3, Thrombocytopenia 3 |
| RS1060505057 |
MPIG6B
|
Health Risk |
Pathogenic |
Thrombocytopenia, anemia |
| RS1060505058 |
MCM9
|
Health Risk |
Pathogenic |
46, XX ovarian dysgenesis-short stature syndrome |
| RS1061009 |
HBA1
|
Health Risk |
Conflicting classifications of pathogenicity |
HEMOGLOBIN BUFFALO, HEMOGLOBIN BUFFALO |
| RS1061170 |
CFH
|
Health Risk |
Conflicting classifications of pathogenicity |
Basal laminar drusen, Age related macular degeneration 4 |
| RS1061235 |
HLA-A
|
Health Risk |
risk factor |
Carbamazepine hypersensitivity, Carbamazepine hypersensitivity |
| RS1061317 |
NEB
|
Health Risk |
Conflicting classifications of pathogenicity |
Nemaline myopathy 2, Nemaline myopathy 2 |
| RS1061517 |
SDHA
|
Health Risk |
Pathogenic/Likely pathogenic |
Mitochondrial complex II deficiency, nuclear type 1 |
| RS1061581 |
HSPA1A
|
Health Risk |
association |
Chronic obstructive pulmonary disease, Chronic obstructive pulmonary disease |
| RS1061970 |
COL1A1
|
Health Risk |
Conflicting classifications of pathogenicity |
Infantile cortical hyperostosis, Ehlers-Danlos syndrome |
| RS1062468 |
SDHA
|
Health Risk |
Conflicting classifications of pathogenicity |
Mitochondrial complex II deficiency, nuclear type 1 |
| RS1063262 |
FLNC
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Myofibrillar myopathy 5 |
| RS1063385 |
AIP
|
Health Risk |
Conflicting classifications of pathogenicity |
Somatotroph adenoma, Hereditary cancer-predisposing syndrome |
| RS1063401 |
PKD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease, adult type |
| RS1063405 |
PKD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Polycystic kidney disease, adult type |
| RS1063445 |
GANAB
|
Health Risk |
Conflicting classifications of pathogenicity |
Chronic kidney disease, Autosomal dominant polycystic liver disease |
| RS1063735 |
ARHGAP35
|
Health Risk |
Pathogenic |
Bilateral microphthalmos, Syndromic microphthalmia |
| RS1064325 |
DMD
|
Health Risk |
Conflicting classifications of pathogenicity |
Duchenne muscular dystrophy, Dystrophin deficiency |
| RS1064422 |
IGLL1
|
Health Risk |
Conflicting classifications of pathogenicity |
Agammaglobulinemia 2, autosomal recessive |
| RS1064439 |
ESRRB
|
Health Risk |
Pathogenic |
— |
| RS1064644 |
GBA1
|
Health Risk |
Pathogenic/Likely pathogenic |
Gaucher disease, Gaucher disease perinatal lethal |
| RS1064651 |
GBA1
|
Health Risk |
Pathogenic/Likely pathogenic |
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Gaucher disease type I |
| RS1064792852 |
CFAP418
|
Health Risk |
Pathogenic |
Retinitis pigmentosa 64, Retinitis pigmentosa 64 |
| RS1064792853 |
CFAP418
|
Health Risk |
Pathogenic |
Cone-rod dystrophy 16, Cone-rod dystrophy 16 |
| RS1064792854 |
POU4F3
|
Health Risk |
Pathogenic |
Autosomal dominant nonsyndromic hearing loss 15, Autosomal dominant nonsyndromic hearing loss 15 |
| RS1064792855 |
TYMP
|
Health Risk |
Likely pathogenic |
Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1 |
| RS1064792857 |
TYMP
|
Health Risk |
Pathogenic |
Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1 |
| RS1064792858 |
TYMP
|
Health Risk |
Pathogenic |
Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1 |
| RS1064792860 |
TYMP
|
Health Risk |
Pathogenic |
Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1 |
| RS1064792861 |
TYMP
|
Health Risk |
Likely pathogenic |
Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1 |
| RS1064792862 |
TYMP
|
Health Risk |
Pathogenic |
Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1 |
| RS1064792863 |
TYMP
|
Health Risk |
Pathogenic |
Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1 |
| RS1064792864 |
TYMP
|
Health Risk |
Likely pathogenic |
Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1 |
| RS1064792865 |
TYMP
|
Health Risk |
Likely pathogenic |
Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1 |
| RS1064792866 |
TYMP
|
Health Risk |
Pathogenic |
Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1 |
| RS1064792867 |
TYMP
|
Health Risk |
Likely pathogenic |
Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1 |
| RS1064792868 |
TYMP
|
Health Risk |
Pathogenic |
Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1 |
| RS1064792870 |
TYMP
|
Health Risk |
Pathogenic |
Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1 |
| RS1064792872 |
TYMP
|
Health Risk |
Likely pathogenic |
Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1 |
| RS1064792873 |
TYMP
|
Health Risk |
Conflicting classifications of pathogenicity |
Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1 |
| RS1064792874 |
TYMP
|
Health Risk |
Likely pathogenic |
Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1 |
| RS1064792876 |
TYMP
|
Health Risk |
Pathogenic |
Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1 |
| RS1064792877 |
TYMP
|
Health Risk |
Pathogenic |
Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1 |
| RS1064792878 |
TYMP
|
Health Risk |
Pathogenic |
Mitochondrial DNA depletion syndrome 1, Inborn genetic diseases |
| RS1064792879 |
TYMP
|
Health Risk |
Pathogenic |
Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1 |
| RS1064792880 |
TYMP
|
Health Risk |
Pathogenic |
Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1 |
| RS1064792881 |
TYMP
|
Health Risk |
Pathogenic |
Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1 |
| RS1064792885 |
TYMP
|
Health Risk |
Pathogenic |
Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1 |
| RS1064792886 |
TYMP
|
Health Risk |
Pathogenic |
Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1 |
| RS1064792887 |
TYMP
|
Health Risk |
Pathogenic |
Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1 |
| RS1064792888 |
TYMP
|
Health Risk |
Pathogenic |
Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1 |
| RS1064792889 |
TYMP
|
Health Risk |
Pathogenic |
Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1 |
| RS1064792890 |
TYMP
|
Health Risk |
Pathogenic |
Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1 |
| RS1064792891 |
TYMP
|
Health Risk |
Pathogenic |
Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1 |
| RS1064792892 |
TYMP
|
Health Risk |
Pathogenic |
Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1 |
| RS1064792894 |
RARS1
|
Health Risk |
Pathogenic |
Hypomyelinating leukodystrophy 9, Hypomyelinating leukodystrophy 9 |
| RS1064792895 |
CUL7
|
Health Risk |
Pathogenic |
3-M syndrome, 3-M syndrome |
| RS1064792896 |
CYP1B1
|
Health Risk |
Pathogenic |
Irido-corneo-trabecular dysgenesis, Glaucoma 3A |
| RS1064792898 |
MECP2
|
Health Risk |
Pathogenic |
Rett syndrome, Rett syndrome |
| RS1064792899 |
MECP2
|
Health Risk |
Likely pathogenic |
Rett syndrome, Rett syndrome |
| RS1064792900 |
FH
|
Health Risk |
Pathogenic |
Hereditary leiomyomatosis and renal cell cancer, Hereditary cancer-predisposing syndrome |
| RS1064792905 |
LDLR
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypercholesterolemia, familial |
| RS1064792906 |
MEN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Multiple endocrine neoplasia, type 1 |
| RS1064792910 |
PTEN
|
Health Risk |
Pathogenic |
PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome |
| RS1064792911 |
PTEN
|
Health Risk |
Likely pathogenic |
PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome |
| RS1064792912 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS1064792914 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1064792915 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1064792916 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1064792918 |
MLH1
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS1064792919 |
POLE
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1064792920 |
POLE
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1064792921 |
POLE
|
Health Risk |
Pathogenic |
— |
| RS1064792923 |
TSC2
|
Health Risk |
Pathogenic |
Tuberous sclerosis 2, Tuberous sclerosis 2 |
| RS1064792926 |
SCN5A
|
Health Risk |
Pathogenic/Likely pathogenic |
— |
| RS1064792927 |
PKP2
|
Health Risk |
Pathogenic |
Arrhythmogenic right ventricular dysplasia 9, Cardiovascular phenotype |
| RS1064792928 |
PKP2
|
Health Risk |
Pathogenic/Likely pathogenic |
Arrhythmogenic right ventricular dysplasia 9, Cardiomyopathy |
| RS1064792929 |
PKP2
|
Health Risk |
Pathogenic |
Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9 |
| RS1064792930 |
TP53
|
Health Risk |
Pathogenic |
Li-Fraumeni syndrome, Adrenocortical carcinoma |
| RS1064792931 |
BARD1
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS1064792934 |
ENG
|
Health Risk |
Pathogenic |
Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia |
| RS1064792935 |
MYH7
|
Health Risk |
Likely pathogenic |
Hypertrophic cardiomyopathy, Inborn genetic diseases |
| RS1064792936 |
MYBPC3
|
Health Risk |
Pathogenic |
Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4 |
| RS1064792938 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Familial cancer of breast |
| RS1064792939 |
ATM
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS1064792940 |
ATM
|
Health Risk |
Likely pathogenic |
Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS1064792944 |
POLD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Colorectal cancer, susceptibility to |
| RS1064792947 |
RSPH1
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |